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SHR Neuro Krebs Kardio Lipid

Zalaudek, I; Ciarrocchi, A; Piana, S; Argenziano, G; Torricelli, F; Sancisi, V; Gandolfi, G; Longo, C; Moscarella, E; Banzi, C; Nicoli, D.
A novel BRAF mutation in association with primary amelanotic melanoma with oral metastases.
J Eur Acad Dermatol Venereol. 2015; 29(2):387-390 (- Case Report)
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Autor/innen der Med Uni Graz:
Zalaudek Iris
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Abstract:
In the context of amelanotic melanoma, little is known on the genetic or molecular background that determines the onset of this peculiar phenotype of melanoma and its sites of metastatic spread. However, it appears that amelanotic melanomas frequently lack BRAF mutations. To report the genetical analysis of one case amelanotic melanoma developing oral metastasis. The BRAF mutational status of the primary lesion was assessed by both Sanger sequencing and pyrosequencing. Both methodologies showed changes in three nucleotides: C1796T; G1798A and T1799A. These mutations should result in a rare double aminoacid substitution in codons 599 and 600 of the BRAF protein (BRAF T599I/V600K). This unusual mutation was associated with an uncommon clinical phenotype of the primary tumour and with an unusual site of metastatic spread. In the lack of comparable data, a potential association between the unusual mutation and clinical findings remains a matter of further studies. © 2014 European Academy of Dermatology and Venereology.
Find related publications in this database (using NLM MeSH Indexing)
Adult -
Humans -
Male -
Melanoma - genetics
Melanoma - pathology
Mouth Neoplasms - secondary
Mutation -
Proto-Oncogene Proteins B-raf - genetics
Skin Neoplasms - genetics
Skin Neoplasms - pathology

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